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8 in total

1. Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.

Authors: Shinji Hadano; Asako Otomo; Ryota Kunita; Kyoko Suzuki-Utsunomiya; Akira Akatsuka; Masato Koike; Masashi Aoki; Yasuo Uchiyama; Yasuto Itoyama; Joh-E Ikeda
Journal: PLoS One Date: 2010-03-22 Impact factor: 3.240

2. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

Authors: Kai Sato; Asako Otomo; Mahoko Takahashi Ueda; Yui Hiratsuka; Kyoko Suzuki-Utsunomiya; Junya Sugiyama; Shuji Murakoshi; Shun Mitsui; Suzuka Ono; So Nakagawa; Hui-Fang Shang; Shinji Hadano
Journal: J Biol Chem Date: 2018-09-17 Impact factor: 5.157

3. An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report.

Authors: Afagh Alavi; Marzieh Khani; Shahriar Nafissi; Hosein Shamshiri; Elahe Elahi
Journal: Iran J Basic Med Sci Date: 2014-10 Impact factor: 2.699

4. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

Authors: Una-Marie Sheerin; Susanne A Schneider; Lucinda Carr; Guenther Deuschl; Franziska Hopfner; Maria Stamelou; Nicholas W Wood; Kailash P Bhatia
Journal: Neurology Date: 2014-02-21 Impact factor: 9.910

5. Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.

Authors: Marzieh Khani; Afagh Alavi; Shahriar Nafissi; Elahe Elahi
Journal: Iran J Neurol Date: 2015-07-06

Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan.

1. Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.

2. Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

3. An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report.

4. ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia.

5. Observation of c.260A > G mutation in superoxide dismutase 1 that causes p.Asn86Ser in Iranian amyotrophic lateral sclerosis patient and absence of genotype/phenotype correlation.

6. Rostrocaudal Areal Patterning of Human PSC-Derived Cortical Neurons by FGF8 Signaling.

7. Alsin related disorders: literature review and case study with novel mutations.

Review 8. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.